Canonical Allele Identifier: CA402540950

Gene: ATP8B1

Linked Data

• MyVariant Identifiers: chr18:g.55361825T>G (hg19) ; chr18:g.57694593T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694593T>G , CM000680.2:g.57694593T>G	GRCh38
NC_000018.9:g.55361825T>G , CM000680.1:g.55361825T>G	GRCh37
NC_000018.8:g.53512823T>G	NCBI36
NG_007148.2:g.113503A>C
NG_007148.3:g.114230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1018A>C	ENSP00000494712.1:p.Met340Leu
ENST00000648039.1:c.1018A>C	ENSP00000497863.1:p.Met340Leu
ENST00000648467.1:c.851A>C
ENST00000648908.2:c.1018A>C MANE Select	ENSP00000497896.1:p.Met340Leu
ENST00000283684.8:c.1018A>C	ENSP00000283684.4:p.Met340Leu
ENST00000536015.5:c.1018A>C	ENSP00000445359.1:p.Met340Leu
NM_005603.4:c.1018A>C	NP_005594.1:p.Met340Leu
XM_006722481.2:c.1018A>C	XP_006722544.1:p.Met340Leu
XM_011526020.1:c.1018A>C	XP_011524322.1:p.Met340Leu
XM_011526021.1:c.1018A>C	XP_011524323.1:p.Met340Leu
XM_011526022.1:c.1018A>C	XP_011524324.1:p.Met340Leu
XM_011526023.1:c.904A>C	XP_011524325.1:p.Met302Leu
XM_011526024.1:c.298A>C	XP_011524326.1:p.Met100Leu
XR_935525.1:n.32-1352T>G
XR_935526.1:n.32-1352T>G
NM_005603.6:c.1018A>C	NP_005594.2:p.Met340Leu
XM_006722481.4:c.1018A>C	XP_006722544.1:p.Met340Leu
XM_011526023.3:c.904A>C	XP_011524325.1:p.Met302Leu
NM_001374385.1:c.1018A>C MANE Select	NP_001361314.1:p.Met340Leu
NM_001374386.1:c.868A>C	NP_001361315.1:p.Met290Leu